Canonical Allele Identifier: CA1586824690
Gene: NDUFA2 HGNC NCBI
TMCO6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140645667C= , CM000667.2:g.140645667C= GRCh38
NC_000005.9:g.140025252C= , CM000667.1:g.140025252C= GRCh37
NC_000005.8:g.140005436C= NCBI36
NG_021417.1:g.7119G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252102.9:c.220G= (NDUFA2) MANE Select ENSP00000252102.5:p.Glu74=
ENST00000252102.8:c.220G= (NDUFA2) ENSP00000252102.4:p.Glu74=
ENST00000502960.1:n.528G= (NDUFA2)
ENST00000510680.1:n.59+1589G= (NDUFA2)
ENST00000512088.1:c.*36G= (NDUFA2) ENSP00000427220.1:n.*36G=
NM_001185012.1:c.*36G= (NDUFA2) NP_001171941.1:n.*36G=
NM_002488.4:c.220G= (NDUFA2) NP_002479.1:p.Glu74=
NR_033697.1:n.542G= (NDUFA2)
XM_011537663.1:c.1219-1148C= (TMCO6) XP_011535965.1:n.1219-1148C=
XM_011537663.2:c.1219-1148C= (TMCO6) XP_011535965.1:n.1219-1148C=
NM_002488.5:c.220G= (NDUFA2) MANE Select NP_002479.1:p.Glu74=
NM_001185012.2:c.*36G= (NDUFA2) NP_001171941.1:n.*36G=
NR_033697.2:n.387G= (NDUFA2)